Discapacidad
Rare diseases, including those of genetic origin, are defined by the European Union as life-threatening or chronically debilitating diseases which are of such low prevalence (less than 5 per 10,000). The specificities of rare diseases – limited number of patients and scarcity of relevant knowledge and expertise – single them out as a unique domain […]
…The EU LeukoTreat program aims to connect, enlarge and improve existing national databases for leukodystrophies (LDs) and other genetic diseases affecting the white matter of the brain. Ethical issues have been placed high on the agenda by pairing the participating LD expert research teams with experts in medical ethics and LD patient families and associations. […]
…Wolfram, Alstrom and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We […]
…National Plans for Rare Diseases (RDs) are the common denominator of current public health policy concerns on RDs across the EU. With the aim of a better distribution of the available resources, they conjugate the European objective that aims at ensuring that patients with RDs have access to high-quality care – including diagnostics, treatment and […]
…Most rare diseases are life-threatening and chronically debilitating conditions, and the vast majority of them are genetically determined. Their individually low prevalence requires special combined efforts to address them so as to improve diagnosis, care and prevention. Though it is difficult to develop a public health policy specific to each rare disease, it is possible […]
…Rare diseases (RDs) affect less than 5 per 10,000 individuals in Europe, while in the USA a rare condition is considered to have a prevalence of fewer than 200,000 affected Americans. RDs stem as one of the most urgent and emerging health problems worldwide, creating a substantial personal, community and financial burden globally. However, available […]
…Rare diseases are a clinically heterogeneous group of about 6.500 disorders, and in fewer than 200.000 individuals in the USA.They are commonly diagnosed during childhood, often inherited, and can have deleterious long-term effects. Although any one condition is rare, their cumulative public health burden is substantial, with 6-8% of people having a rare disease at […]
…Similar to other orphan diseases, little progress has been made in the past decades in thymic malignancies. A determination to make a difference, despite the challenges facing a rare disease, led to the formation of the International Thymic Malignancies Interest Group (ITMIG) in 2010. This organization has brought together the majority of those focused on […]
…Rare diseases (RDs), including those of genetic origin, are defined by the European Union (EU) as life-threatening or chronically debilitating diseases, which are of low prevalence (fewer than 5 per 10,000). The specificities of RDs – a limited number of patients and scarcity of relevant knowledge and expertise – single them out as a unique […]
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